ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)

gnomAD frequency: 0.00179  dbSNP: rs114507258
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962566 SCV001109655 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000962566 SCV002571666 uncertain significance not provided 2024-12-17 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a fetus with an increased nuchal translucency (PMID: 36959127); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 36959127)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000962566 SCV003800200 likely benign not provided 2024-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000962566 SCV005250309 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960722 SCV004771436 likely benign PIEZO1-related disorder 2021-08-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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